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Background: This study explored the relationship between self‐perceived stigmatization (affiliate stigma), stress and quality of life among parents of children with autism spectrum disorder (ASD). Method: Participants (N = 110) filled‐in the Affiliate Stigma Scale, the Caregiver Burden Inventory and the CarerQOL scale. Results: Parents reported low scores on stigma and fair levels of stress and quality of life, indicating that parents do not feel stigmatized by affiliation with a child with ASD nor are they stressed from affiliate stigma. After controlling for demographic factors, both the relationships of affiliate stigma with stress and with quality of life were weak, indicating that stigma may have little to no effect on stress and quality of life. Conclusion: Cultural and religious beliefs may play a part in the acceptance of a child's condition, resulting in less impact of stigma on the parents. [ABSTRACT FROM AUTHOR]

Background: Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate, leading to skeletal and other systemic impairments. Data on MPS IVA in Asian populations are scarce.Methods: This is a multicentre descriptive case series of 21 patients comprising all MPS IVA patients in Malaysia. Mutational analysis was performed by PCR and Sanger sequencing of the GALNS gene in 17 patients.Results: The patients (15 females and 6 males) had a mean age (± SD) of 15.5 (± 8.1) years. Mean age at symptom onset was 2.6 (± 2.1) years and at confirmed diagnosis was 6.9 (± 4.5) years. The study cohort included patients from all the main ethnic groups in Malaysia - 57% Malay, 29% Chinese and 14% Indian. Common presenting symptoms included pectus carinatum (57%) and genu valgum (43%). Eight patients (38%) had undergone surgery, most commonly knee surgeries (29%) and cervical spine decompression (24%). Patients had limited endurance with lower mean walking distances with increasing age. GALNS gene analysis identified 18 distinct mutations comprising 13 missense, three nonsense, one small deletion and one splice site mutation. Of these, eight were novel mutations (Tyr133Ser, Glu158Valfs*12, Gly168*, Gly168Val, Trp184*, Leu271Pro, Glu320Lys, Leu508Pro). Mutations in exons 1, 5 and 9 accounted for 51% of the mutant alleles identified.Conclusions: All the MPS IVA patients in this study had clinical impairments. A better understanding of the natural history and the clinical and genetic spectrum of MPS IVA in this population may assist early diagnosis, improve management and permit timely genetic counselling and prenatal diagnosis. [ABSTRACT FROM AUTHOR]